Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152727829C>G , CM000685.2:g.152727829C>G | GRCh38 |
| NC_000023.10:g.151909173G>C , CM000685.1:g.151909173G>C | GRCh37 |
| NC_000023.9:g.151659829G>C | NCBI36 |
| NG_013228.2:g.10906G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001102576.3:c.202G>C MANE Select | NP_001096046.2:p.Val68Leu |
| ENST00000452779.3:c.202G>C MANE Select | ENSP00000396520.2:p.Val68Leu |
| NM_001102576.2:c.202G>C | NP_001096046.2:p.Val68Leu |
| NM_153478.2:c.202G>C | NP_705611.2:p.Val68Leu |
| NM_153478.3:c.202G>C | NP_705611.2:p.Val68Leu |
| ENST00000361211.9:c.*125G>C | ENSP00000354898.5:n.*125G>C |
| ENST00000370287.7:c.202G>C | ENSP00000359310.3:p.Val68Leu |
| ENST00000370291.6:c.*190G>C | ENSP00000359314.2:n.*190G>C |
| ENST00000452779.2:c.202G>C | ENSP00000396520.2:p.Val68Leu |